A monozygotic twin pair with highly discordant Gaucher phenotypes

We describe monozygotic twin sisters, born to consanguineous Moroccan parents, who are highly discordant for the manifestations of Gaucher disease. Both carry Gaucher genotype N188S/N188S. One has severe visceral involvement, epilepsy, and a cerebellar syndrome. Her twin does not manifest any sympto...

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Bibliografiset tiedot
Päätekijät: Biegstraaten, M., van Schaik, I.N., Aerts, J.M.F.G., Langeveld, M., Mannens, M.M.A.M., Bour, L.J., Sidransky, E., Tayebi, N., Fitzgibbon, E., Hollak, C.E.M.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2010
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3352676/
https://ncbi.nlm.nih.gov/pubmed/21056933
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bcmd.2010.10.007
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